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Aceruloplasminemia is a rare autosomal recessive disorder [2] in which the liver can not synthesize the protein ceruloplasmin properly, which is needed to transport copper around the blood. Copper deficiency in the brain results in neurological problems that generally appear in adulthood and worsen over time.
Ceruloplasmin (or caeruloplasmin) is a ferroxidase enzyme that in humans is encoded by the CP gene. [ 5 ] [ 6 ] [ 7 ] Ceruloplasmin is the major copper -carrying protein in the blood, and in addition plays a role in iron metabolism .
Levels of ceruloplasmin are abnormally low (<0.2 g/L) in 80–95% of cases. [5] It can be present at normal levels, though, in people with ongoing inflammation, as it is an acute phase protein. Low ceruloplasmin is also found in Menkes disease and aceruloplasminemia, which are related to, but much rarer than Wilson's disease.
Before gene testing was available, the type and location of tumors determined which type of MEN2 a person had. Gene testing now allows a diagnosis before tumors or symptoms develop. [citation needed] Comparison of main types of multiple endocrine neoplasia. A table in the multiple endocrine neoplasia article compares the various MEN syndromes ...
Normal total protein levels are not sufficient to rule out multiple myeloma or other malignant paraproteinemias, but they may also be the cause of moderate-to-marked hyperproteinemia. To determine the reason behind the elevated serum total protein, a serum protein electrophoresis should be carried out. [2] clinical significance
11979 Ensembl ENSG00000123191 ENSMUSG00000006567 UniProt P35670 Q64446 RefSeq (mRNA) NM_000053 NM_001005918 NM_001243182 NM_001330578 NM_001330579 NM_007511 RefSeq (protein) NP_000044 NP_001005918 NP_001230111 NP_001317507 NP_001317508 NP_000044.2 NP_000044.2 NP_001005918.1 NP_001230111.1 NP_031537 NP_001390638 Location (UCSC) Chr 13: 51.93 – 52.01 Mb Chr 8: 22.48 – 22.55 Mb PubMed search ...
Copper deficiency, or hypocupremia, is defined as insufficient copper to meet the body's needs, or as a serum copper level below the normal range. [1] Symptoms may include fatigue, decreased red blood cells, early greying of the hair, and neurological problems presenting as numbness, tingling, muscle weakness, and ataxia. [2]
Positive acute-phase proteins serve (as part of the innate immune system) different physiological functions within the immune system.Some act to destroy or inhibit growth of microbes, e.g., C-reactive protein, mannose-binding protein, [3] complement factors, ferritin, ceruloplasmin, serum amyloid A and haptoglobin.